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Proteus syndrome

Synonyms
Elattoproteus syndrome; Gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly; Hemihypertrophy and macrocephaly; Macrocephaly mesodermal hamartoma spectrum; PROTEUS SYNDROME, SOMATIC; Partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly
Modes of inheritance
Not genetically inherited (Orphanet)

Summary

Excerpted from the GeneReview: Proteus Syndrome
Proteus syndrome (PS) is characterized by progressive segmental or patchy overgrowth most commonly affecting the skeleton, skin, adipose, and central nervous systems. In most individuals PS has modest or no manifestations at birth, develops and progresses rapidly beginning in the toddler period, and relentlessly progresses through childhood, causing severe overgrowth and disfigurement. It is associated with a range of tumors, pulmonary complications, and a striking predisposition to deep vein thrombosis and pulmonary embolism.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Leslie G Biesecker
Julie C Sapp
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Available tests

29 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (29 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AKT, PKB, PKB-ALPHA, PRKBA, RAC, RAC-ALPHA, AKT1
    Summary: AKT serine/threonine kinase 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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Reviews

Suggested reading

  • Lindhurst et al., 2011
    A mosaic activating mutation in AKT1 associated with the Proteus syndrome.
  • Turner et al., 2004
    Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases.
  • Biesecker et al., 1998
    Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.

Clinical resources

Molecular resources

Consumer resources

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